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NC_000019.9:g.(?_7586521)_(8670595_?)dup AND Mucolipidosis type IV

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 4, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003109714.3

Allele description [Variation Report for NC_000019.9:g.(?_7586521)_(8670595_?)dup]

NC_000019.9:g.(?_7586521)_(8670595_?)dup

Genes:
  • ADAMTS10:ADAM metallopeptidase with thrombospondin type 1 motif 10 [Gene - OMIM - HGNC]
  • CCL25:C-C motif chemokine ligand 25 [Gene - OMIM - HGNC]
  • CLEC4G:C-type lectin domain family 4 member G [Gene - OMIM - HGNC]
  • CLEC4M:C-type lectin domain family 4 member M [Gene - OMIM - HGNC]
  • CD209:CD209 molecule [Gene - OMIM - HGNC]
  • CD320:CD320 molecule [Gene - OMIM - HGNC]
  • ELAVL1:ELAV like RNA binding protein 1 [Gene - OMIM - HGNC]
  • FCER2:Fc epsilon receptor II [Gene - OMIM - HGNC]
  • KANK3:KN motif and ankyrin repeat domains 3 [Gene - OMIM - HGNC]
  • NDUFA7:NADH:ubiquinone oxidoreductase subunit A7 [Gene - OMIM - HGNC]
  • PET100:PET100 cytochrome c oxidase chaperone [Gene - OMIM - HGNC]
  • PRAM1:PML-RARA regulated adaptor molecule 1 [Gene - OMIM - HGNC]
  • PCP2:Purkinje cell protein 2 [Gene - OMIM - HGNC]
  • RAB11B:RAB11B, member RAS oncogene family [Gene - OMIM - HGNC]
  • XAB2:XPA binding protein 2 [Gene - OMIM - HGNC]
  • ANGPTL4:angiopoietin like 4 [Gene - OMIM - HGNC]
  • CAMSAP3:calmodulin regulated spectrin associated protein family member 3 [Gene - OMIM - HGNC]
  • CERS4:ceramide synthase 4 [Gene - OMIM - HGNC]
  • CTXN1:cortexin 1 [Gene - OMIM - HGNC]
  • EVI5L:ecotropic viral integration site 5 like [Gene - HGNC]
  • FBN3:fibrillin 3 [Gene - OMIM - HGNC]
  • HNRNPM:heterogeneous nuclear ribonucleoprotein M [Gene - OMIM - HGNC]
  • LRRC8E:leucine rich repeat containing 8 VRAC subunit E [Gene - OMIM - HGNC]
  • MCEMP1:mast cell expressed membrane protein 1 [Gene - OMIM - HGNC]
  • MARCHF2:membrane associated ring-CH-type finger 2 [Gene - OMIM - HGNC]
  • MAP2K7:mitogen-activated protein kinase kinase 7 [Gene - OMIM - HGNC]
  • MCOLN1:mucolipin TRP cation channel 1 [Gene - OMIM - HGNC]
  • MYO1F:myosin IF [Gene - OMIM - HGNC]
  • PNPLA6:patatin like phospholipase domain containing 6 [Gene - OMIM - HGNC]
  • RETN:resistin [Gene - OMIM - HGNC]
  • RPS28:ribosomal protein S28 [Gene - OMIM - HGNC]
  • SNAPC2:small nuclear RNA activating complex polypeptide 2 [Gene - OMIM - HGNC]
  • STXBP2:syntaxin binding protein 2 [Gene - OMIM - HGNC]
  • TRAPPC5:trafficking protein particle complex subunit 5 [Gene - HGNC]
  • TGFBR3L:transforming growth factor beta receptor 3 like [Gene - HGNC]
  • TIMM44:translocase of inner mitochondrial membrane 44 [Gene - OMIM - HGNC]
  • ZNF414:zinc finger protein 414 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.2
Genomic location:
Chr19: 7586521 - 8670595 (on Assembly GRCh37)
Preferred name:
NC_000019.9:g.(?_7586521)_(8670595_?)dup
HGVS:
NC_000019.9:g.(?_7586521)_(8670595_?)dup

Condition(s)

Name:
Mucolipidosis type IV (ML4)
Synonyms:
ML IV; Mucolipidosis type 4; ML 4
Identifiers:
MONDO: MONDO:0009653; MedGen: C0238286; Orphanet: 578; OMIM: 252650

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003791709Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Feb 4, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003791709.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

A copy number gain of the genomic region encompassing the full coding sequence of the MCOLN1 gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome. This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024